SYCE2, synaptonemal complex central element protein 2, 256126
N. diseases: 6; N. variants: 33
Source: ALL
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 19 | 12897743 | missense variant | T/C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 19 | 12897787 | frameshift variant | -/T | ins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 19 | 12897764 | missense variant | G/A | snv | 4.0E-06 | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 0 | |||||||||
|
1.000 | 0.120 | 19 | 12897734 | missense variant | A/C;G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.120 | 19 | 12899471 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2004 | 2004 | |||||||||
|
0.925 | 0.120 | 19 | 12899507 | missense variant | T/C | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2004 | 2004 | ||||||||
|
0.925 | 0.120 | 19 | 12899507 | missense variant | T/C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
1.000 | 0.120 | 19 | 12897860 | stop gained | G/A;T | snv | 4.4E-05 | 1.3E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.710 | 1.000 | 4 | 1996 | 2009 | ||||||
|
19 | 12904716 | non coding transcript exon variant | A/G | snv | 0.33 | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 12918374 | intron variant | G/A | snv | 0.66 | 0.64 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
19 | 12913436 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
19 | 12919466 | upstream gene variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
19 | 12899829 | 3 prime UTR variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.120 | 19 | 12897859 | stop gained | C/A;G;T | snv | 4.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 5 | 1995 | 2010 | |||||||
|
1.000 | 0.120 | 19 | 12899541 | stop lost | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2000 | 2010 | ||||||||
|
19 | 12904716 | non coding transcript exon variant | A/G | snv | 0.33 | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 12918374 | intron variant | G/A | snv | 0.66 | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
19 | 12913436 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 12913436 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
19 | 12919466 | upstream gene variant | G/A | snv | 0.64 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
19 | 12899829 | 3 prime UTR variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.120 | 19 | 12897767 | missense variant | C/T | snv | 1.6E-05 | 7.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 15 | 1995 | 2014 | ||||||
|
1.000 | 0.120 | 19 | 12897788 | missense variant | G/C | snv | 1.2E-05 | 5.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 1995 | 2014 | ||||||
|
1.000 | 0.120 | 19 | 12897789 | missense variant | G/C;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.800 | 1.000 | 10 | 1995 | 2014 | |||||||
|
0.925 | 0.120 | 19 | 12899471 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases | 0.810 | 1.000 | 8 | 1995 | 2014 |